Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

• Authors: J. Bogdanowicz , B. Pawlowska , A. Ilnicka , S. Gawlik-Zawislak , A. Jozwiak , B. Sobiczewska , E. Zdzienicka , L. Korniszewski , J. Zaremba
• Languages of publication: EN

Abstracts

EN

Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytogenetic methods revealed normal karyotype. Four (5.3%) subtelomeric rearrangements were detected by FISH: 2 subtelomeric 1p36 deletions, an unbalanced translocation involving chromosomes 1 and 12 with 1p36 deletion, and a de novo balanced translocation involving chromosomes 19 and 22. Thus, 3 cases of 1p36 subtelomeric deletion were found (3.95%). To confirm subtelomeric rearrangements in 2 patients, comparative genomic hybridization (CGH) was applied. Moreover, 3 cases of polymorphism without phenotypic effects were found: in 2 patients, the polymorphism involved the long arm of chromosome 2 (maternal derivative in both patients), while in the third patient, a polymorphism of the long arm of chromosome 7 was diagnosed. The latter polymorphism was also found in the patient's mother and grandfather.

Keywords

EN

DELETION; DYSMORPHIC FEATURE; GENOMIC HYBRIDIZATION; HYBRIDIZATION

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2010
• Volume: 51
• Issue: 2
• Pages: 215-217

Contributors

author

J. Bogdanowicz

author

B. Pawlowska

author

A. Ilnicka

author

S. Gawlik-Zawislak

author

A. Jozwiak

author

B. Sobiczewska

author

E. Zdzienicka

author

L. Korniszewski

author

J. Zaremba

• Document Type: ARTICLE
• Publication order reference: J. Zaremba, Institute of Psychiatry and Neurology, Department of Genetics, Sobieskiego 9, Warsaw, Poland